Evidence map›Paper›PMID 34731335›Full record

SynthesisNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022

Becker muscular dystrophy: case report, review of the literature, and analysis of differentially expressed hub genes.

Min Li, Yongli Han, Shuying Wang, Yajie Yu, Mengling Liu, Yingfeng Xia, Ze'an Weng, Ling Zhou, Xiaoyan He, Jun Wang and 3 more

Abstract readCase ReportsSystematic Review
PubMed Publisher
In one paragraph

Synthesis in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.1field-weighted citation impact, top 55% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 2 institutions in 1 country.

Min Li *Institute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Yongli Han *Institute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Shuying Wang *Institute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Yajie YuInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Mengling LiuInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Yingfeng XiaInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Ze'an WengInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Ling ZhouInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Xiaoyan HeInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Jun WangInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.
Zhi HeMedical School of China Three Gorges University, Yichang, 443002, China.
Liang YuSchool of Computer Science and Technology, Xidian University, Xi'an, China. lyu@xidian.edu.cn.
Yunhong ZhaInstitute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China. yzha7808@ctgu.edu.cn.ORCID http://orcid.org/0000-0003-2899-226X
China Three Gorges University · CNXidian University · CN

Funding

Hubei Provincial Health and Family Planning Commission Key Support Project WJ2017Z025National Natural Science Foundation of China 81201981National Natural Science Foundation of China (CN) 81550031Natural Science Foundation of Hubei Province (CN) 2015CFB197
6 · The paper itself

Abstract

introductionBecker muscular dystrophy (BMD) is a genetic and progressive neuromuscular disease caused by mutations in the dystrophin gene with no available cure. A case report and comprehensive review of BMD cases aim to provide important clues for early diagnosis and implications for clinical practice. Genes and pathways identified from microarray data of muscle samples from patients with BMD help uncover the potential mechanism and provide novel therapeutic targets for dystrophin-deficient muscular dystrophies.

methodsWe describe a BMD family with a 10-year-old boy as the proband and reviewed BMD cases from PubMed. Datasets from the Gene Expression Omnibus database were downloaded and integrated with the online software.

resultsThe systematic review revealed the clinical manifestations and mutation points of the dystrophin gene. Gene ontology analysis showed that extracellular matrix organization and extracellular structure organization with enrichment of upregulated genes coexist in three datasets. We present the first report of TUBA1A involvement in the development of BMD/Duchenne muscular dystrophy (DMD). DISCUSSION: This study provides important implications for clinical practice, uncovering the potential mechanism of the progress of BMD/DMD, and provided new therapeutic targets.

Indexed as

Muscular Dystrophy, DuchenneChildFamilyGene ExpressionHumansMaleMutationBecker muscular dystrophyPPI networkSystematic reviewTUBA1AX-linked recessive inheritance

Identifiers

PMID34731335
OpenAlexW3211169569

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.